Mutagenetix > Incidental Mutation

Incidental Mutation 'R3858:Kcnmb2'

276245

Institutional Source

Beutler Lab

Gene Symbol

Kcnmb2

Ensembl Gene

ENSMUSG00000037610

Gene Name

potassium large conductance calcium-activated channel, subfamily M, beta member 2

Synonyms

3110031N04Rik, 2700049B16Rik

MMRRC Submission

040786-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R3858 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31956656-32254329 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32252450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 217 (V217A)

Ref Sequence

ENSEMBL: ENSMUSP00000141656 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119310] [ENSMUST00000119970] [ENSMUST00000178668] [ENSMUST00000191869] [ENSMUST00000192429] [ENSMUST00000194796]

AlphaFold

Q9CZM9

Predicted Effect

probably damaging
Transcript: ENSMUST00000119310
AA Change: V217A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112531
Gene: ENSMUSG00000037610
AA Change: V217A

Domain	Start	End	E-Value	Type
Pfam:KcnmB2_inactiv	1	32	4.5e-22	PFAM
Pfam:CaKB	38	229	3e-87	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000119970
AA Change: V217A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113234
Gene: ENSMUSG00000037610
AA Change: V217A

Domain	Start	End	E-Value	Type
Pfam:KcnmB2_inactiv	1	32	3.7e-26	PFAM
Pfam:CaKB	33	230	9.6e-96	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000178668
AA Change: V217A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136596
Gene: ENSMUSG00000037610
AA Change: V217A

Domain	Start	End	E-Value	Type
Pfam:KcnmB2_inactiv	1	32	3.7e-26	PFAM
Pfam:CaKB	33	230	9.6e-96	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000191869

SMART Domains

Protein: ENSMUSP00000141955
Gene: ENSMUSG00000037610

Domain	Start	End	E-Value	Type
Pfam:KcnmB2_inactiv	1	32	1.9e-22	PFAM
Pfam:CaKB	33	162	9.3e-60	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000192429
AA Change: V217A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141656
Gene: ENSMUSG00000037610
AA Change: V217A

Domain	Start	End	E-Value	Type
Pfam:KcnmB2_inactiv	1	32	3.7e-26	PFAM
Pfam:CaKB	33	230	9.6e-96	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000194796

Meta Mutation Damage Score

0.8039

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.7%
20x: 96.1%

Validation Efficiency

97% (36/37)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which decreases the activation time of MaxiK alpha subunit currents. Alternative splicing results in multiple transcript variants of this gene. Additional variants are discussed in the literature, but their full length nature has not been described. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous inactivation of this gene abolishes inactivation of BK currents in mouse adrenal chromaffin cells and results in slow-wave burst activity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,863,581 (GRCm39)	S179T	probably benign	Het
Ahnak	A	G	19: 8,988,223 (GRCm39)	E3169G	possibly damaging	Het
Ccdc82	G	A	9: 13,251,704 (GRCm39)		probably benign	Het
Ccng1	A	G	11: 40,644,660 (GRCm39)	L79P	probably damaging	Het
Cd2ap	G	A	17: 43,127,463 (GRCm39)	Q377*	probably null	Het
Celf1	A	G	2: 90,843,086 (GRCm39)	E411G	probably damaging	Het
Cemip2	A	G	19: 21,829,598 (GRCm39)	T1236A	probably benign	Het
Cps1	A	G	1: 67,207,437 (GRCm39)	Y582C	probably damaging	Het
Efhb	A	G	17: 53,769,808 (GRCm39)	L167S	possibly damaging	Het
Erc2	A	G	14: 28,197,599 (GRCm39)		probably benign	Het
Hs3st1	G	A	5: 39,772,256 (GRCm39)	T129I	probably damaging	Het
Irs4	T	C	X: 140,507,059 (GRCm39)	E379G	probably damaging	Het
Megf10	T	C	18: 57,408,907 (GRCm39)		probably benign	Het
Mib1	T	A	18: 10,798,409 (GRCm39)	C757S	possibly damaging	Het
Mtmr4	G	A	11: 87,488,088 (GRCm39)	V24M	probably damaging	Het
Obscn	A	G	11: 58,971,795 (GRCm39)		probably benign	Het
Or12d13	A	T	17: 37,648,117 (GRCm39)	L2*	probably null	Het
Or5b119	T	A	19: 13,457,494 (GRCm39)	I23F	possibly damaging	Het
Pirb	T	C	7: 3,720,662 (GRCm39)	K279E	possibly damaging	Het
Pmp22	T	C	11: 63,025,301 (GRCm39)	S45P	probably benign	Het
Pth2r	A	T	1: 65,361,206 (GRCm39)	I52F	probably damaging	Het
Reck	A	G	4: 43,930,261 (GRCm39)	T612A	probably benign	Het
Rtn4rl2	A	G	2: 84,710,730 (GRCm39)		probably null	Het
Sis	A	G	3: 72,835,985 (GRCm39)	I868T	probably damaging	Het
Slc23a3	A	G	1: 75,106,040 (GRCm39)		probably null	Het
Slc4a1	A	T	11: 102,247,947 (GRCm39)	V349E	probably benign	Het
Thsd7a	C	T	6: 12,555,225 (GRCm39)	G220S	probably benign	Het
Tle4	G	A	19: 14,445,577 (GRCm39)	T223I	probably benign	Het
Tor3a	T	A	1: 156,497,124 (GRCm39)	L140F	probably damaging	Het
Vcf2	T	C	X: 149,203,357 (GRCm39)	Q39R	probably benign	Het
Vmn2r86	A	G	10: 130,291,594 (GRCm39)	M57T	probably benign	Het
Zfp512	G	T	5: 31,630,184 (GRCm39)	R222L	probably damaging	Het

Other mutations in Kcnmb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01909:Kcnmb2	APN	3	32,252,512 (GRCm39)	unclassified	probably benign
IGL02153:Kcnmb2	APN	3	32,232,993 (GRCm39)	missense	probably damaging	1.00
IGL02211:Kcnmb2	APN	3	32,252,483 (GRCm39)	missense	probably damaging	1.00
IGL03019:Kcnmb2	APN	3	32,252,299 (GRCm39)	missense	probably damaging	1.00
IGL03095:Kcnmb2	APN	3	32,252,276 (GRCm39)	makesense	probably null
R0334:Kcnmb2	UTSW	3	32,252,508 (GRCm39)	splice site	probably null
R1781:Kcnmb2	UTSW	3	32,233,152 (GRCm39)	critical splice donor site	probably null
R2064:Kcnmb2	UTSW	3	32,252,437 (GRCm39)	missense	probably damaging	0.99
R4371:Kcnmb2	UTSW	3	32,210,251 (GRCm39)	splice site	probably null
R4766:Kcnmb2	UTSW	3	32,236,016 (GRCm39)	missense	probably damaging	1.00
R5493:Kcnmb2	UTSW	3	32,252,291 (GRCm39)	missense	probably damaging	0.97
R6063:Kcnmb2	UTSW	3	32,233,141 (GRCm39)	missense	probably damaging	1.00
R6240:Kcnmb2	UTSW	3	32,236,045 (GRCm39)	missense	probably damaging	1.00
R6928:Kcnmb2	UTSW	3	32,253,190 (GRCm39)	missense	probably benign	0.05
R6939:Kcnmb2	UTSW	3	32,252,465 (GRCm39)	missense	probably damaging	1.00
R7683:Kcnmb2	UTSW	3	32,252,465 (GRCm39)	missense	probably damaging	1.00
R8808:Kcnmb2	UTSW	3	32,252,266 (GRCm39)	missense	probably benign
R9194:Kcnmb2	UTSW	3	32,236,174 (GRCm39)	missense	probably benign	0.12
R9457:Kcnmb2	UTSW	3	32,236,018 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- TGAGGAGTCCATGTCTCTCG -3'
(R):5'- AGGACAGCGTTTGCATTATTG -3'

Sequencing Primer
(F):5'- CTCGTGAGTGTCGTCATGGAAAAC -3'
(R):5'- CAGACTGCACATTACAAACT -3'

Posted On

2015-04-06